(Q36889782)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

1 reference

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Jamie K Teer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Frank X Donovan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Agata Smogorzewska

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Arleen D. Auerbach

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

Settara C Chandrasekharappa

29 February 2020

1

object named as

Settara C Chandrasekharappa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

3

Danielle C Kimble

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2

Francis P Lach

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

4

Aparna Kamat

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

10

Erica Sanborn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Elizabeth Flynn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Shurjo K Sen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Supawat Thongthip

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

NISC Comparative Sequencing Program

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

English

0 references

publication date

23 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

e138-48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Fanconi anemia and Bloom's syndrome crosstalk through FANCJ-BLM helicase interaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Integrative genomics viewer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Whole exome capture in solution with 3 Gbp of data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

The structure of the catalytic subunit FANCL of the Fanconi anemia core complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

BEDTools: a flexible suite of utilities for comparing genomic features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Fanconi anemia and its diagnosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Diagnosis of Fanconi anemia in patients with bone marrow failure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Genome-wide in situ exon capture for selective resequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Multiplex amplification of large sets of human exons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Direct selection of human genomic loci by microarray hybridization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

A novel ubiquitin ligase is deficient in Fanconi anemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Genotype-phenotype correlations in Fanconi anemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Microarray-based genomic selection for high-throughput resequencing.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668494

Genetic subtyping of Fanconi anemia by comprehensive mutation screening

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23613520

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/23613520

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2012-12-474585

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23613520%20AND%20SRC:MED&resulttype=core&format=json